Chd7^em2Clwa
Endonuclease-mediated Allele Detail

Summary

• Symbol: Chd7^em2Clwa
• Name: chromodomain helicase DNA binding protein 7; endonuclease-mediated mutation 2, Cheryl Lyn Walker
• MGI ID: MGI:8217194
• Synonyms: Chd7^T720A
• Gene: Chd7 Location: Chr4:8690406-8867659 bp, + strand Genetic Position: Chr4, 3.68 cM
• Alliance: Chd7^em2Clwa page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Not Applicable)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology generated an ACA to GCG change resulting in a threonine to alanine substitution at amino acid 720 (p.T720A) in exon 4 which corresponds to human p.T730A. T730 is a critical residue associated with CHD7-related diseases. Two additional silent mutation were engineered to prevent re-targeting. (J:367537)

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	5 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Chd7 Mutation: 134 strains or lines available

References

• Original: J:367537 Park IY, et al., A novel cardiomyopathy phenotype linked to a CHD7 missense variant. Sci Rep. 2025 Jun 3;15(1):19429
• All: 1 reference(s)